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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Central Portal

MSeqDR Data Summary for the Term CA4:

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Ensembl Gene ID	Ensembl Transcript ID	Ensembl Protein ID	Description	Chr	Gene Start	Gene End	Strand	Band	Transcript Start bp	Transcript End bp	Associated Gene Name	Associated Transcript Name	Associated Gene DB	Associated Transcript DB	Transcript count	pct GC content	Gene Biotype	Transcript Biotype	Source Gene	Source Transcript	Status gene	Status transcript	EntrezGene ID	HGNC ID	HGNC Symbol	RefSeq mRNA	Seq region id
ENSG00000167434	CA4	0	0	5	ENSG00000167434	ENST00000300900	ENSP00000300900	carbonic anhydrase IV [Source:HGNC Symbol;Acc:1375]	17	58227297	58248260	1	q23.1	58227297	58236901	CA4	CA4-001	HGNC Symbol	HGNC transcript name	6	54.98	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	762	1375	CA4	NM_000717	27509

MSeqDR Master Exome Data Set M1: 58 entries from same gene

No.	Chr	Position	Reference	Variant	EnsemblTranscriptID	EnsemblGeneID	Gene_Start	Gene_End	EnsemblProteinID	Gene	strand	Uniprot	cChange	pChange	Nature	dbSNP	Freq	EVS	phastCons	SIFT	Polyphen	HGMD	type	samples
1	17	58227349	C	G	ENST00000300900	ENSG00000167434	58227297	58248260	ENSP00000300900	CA4	1	CAH4_HUMAN	-	-	5'_UTR	NA	-	G=0/C=8324;G=32/C=4216;G=32/C=12540	-	-	-	-	het	2
2	17	58227349	C	G	ENST00000585705	ENSG00000167434	58227297	58248260	-	CA4	1	-	c.47C>G	p.P16R	non-syn	NA	-	G=0/C=8324;G=32/C=4216;G=32/C=12540	-	-	-	-	het	2
3	17	58227349	C	G	ENST00000586876	ENSG00000167434	58227297	58248260	ENSP00000467465	CA4	1	-	-	-	5'_UTR	NA	-	G=0/C=8324;G=32/C=4216;G=32/C=12540	-	-	-	-	het	2
4	17	58227349	C	G	ENST00000591725	ENSG00000167434	58227297	58248260	ENSP00000466964	CA4	1	-	-	-	5'_UTR	NA	-	G=0/C=8324;G=32/C=4216;G=32/C=12540	-	-	-	-	het	2
5	17	58227372	G	C	ENST00000300900	ENSG00000167434	58227297	58248260	ENSP00000300900	CA4	1	CAH4_HUMAN	-	-	5'_UTR	rs345191	0.0702	C=5/G=8471;C=354/G=3996;C=359/G=12467	-	-	-	-	het	9
6	17	58227372	G	C	ENST00000585705	ENSG00000167434	58227297	58248260	-	CA4	1	-	c.70G>C	p.E24Q	non-syn	rs345191	0.0702	C=5/G=8471;C=354/G=3996;C=359/G=12467	-	-	-	-	het	9
7	17	58227372	G	C	ENST00000586876	ENSG00000167434	58227297	58248260	ENSP00000467465	CA4	1	-	-	-	5'_UTR	rs345191	0.0702	C=5/G=8471;C=354/G=3996;C=359/G=12467	-	-	-	-	het	9
8	17	58227372	G	C	ENST00000591725	ENSG00000167434	58227297	58248260	ENSP00000466964	CA4	1	-	-	-	5'_UTR	rs345191	0.0702	C=5/G=8471;C=354/G=3996;C=359/G=12467	-	-	-	-	het	9
9	17	58234012	A	G	ENST00000300900	ENSG00000167434	58227297	58248260	ENSP00000300900	CA4	1	CAH4_HUMAN	c.204A>G	p.G68G	syn	rs35468643	0.0385	G=2/A=8598;G=177/A=4229;G=179/A=12827	-	-	-	-	het	7
10	17	58234012	A	G	ENST00000585705	ENSG00000167434	58227297	58248260	-	CA4	1	-	c.297A>G	p.G99G	syn	rs35468643	0.0385	G=2/A=8598;G=177/A=4229;G=179/A=12827	-	-	-	-	het	7
11	17	58234012	A	G	ENST00000586876	ENSG00000167434	58227297	58248260	ENSP00000467465	CA4	1	-	c.204A>G	p.G68G	syn	rs35468643	0.0385	G=2/A=8598;G=177/A=4229;G=179/A=12827	-	-	-	-	het	7
12	17	58234012	A	G	ENST00000591725	ENSG00000167434	58227297	58248260	ENSP00000466964	CA4	1	-	-	-	5'_UTR	rs35468643	0.0385	G=2/A=8598;G=177/A=4229;G=179/A=12827	-	-	-	-	het	7
13	17	58234086	A	T	ENST00000300900	ENSG00000167434	58227297	58248260	ENSP00000300900	CA4	1	CAH4_HUMAN	-	-	+10bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
14	17	58234086	A	T	ENST00000585705	ENSG00000167434	58227297	58248260	-	CA4	1	-	c.371A>T	p.D124V	non-syn	NA	-	-	-	-	-	-	het	1
15	17	58234086	A	T	ENST00000586876	ENSG00000167434	58227297	58248260	ENSP00000467465	CA4	1	-	-	-	+10bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
16	17	58234086	A	T	ENST00000591725	ENSG00000167434	58227297	58248260	ENSP00000466964	CA4	1	-	-	-	+10bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
17	17	58234154	A	T	ENST00000585705	ENSG00000167434	58227297	58248260	-	CA4	1	-	c.439A>T	p.R147W	non-syn	rs117154637	0.0447	-	-	-	-	-	het	70
18	17	58234154	A	T	ENST00000585705	ENSG00000167434	58227297	58248260	-	CA4	1	-	c.439A>T	p.R147W	non-syn	rs117154637	0.0447	-	-	-	-	-	hom	3
19	17	58235051	A	T	ENST00000300900	ENSG00000167434	58227297	58248260	ENSP00000300900	CA4	1	CAH4_HUMAN	c.415A>T	p.M139L	non-syn	rs185658468	0.0012	-	lod=38:358	-	P	-	het	1
20	17	58235341	C	T	ENST00000590203	ENSG00000167434	58227297	58248260	ENSP00000465837	CA4	1	-	-	-	-9bp 3'_splice_site	NA	-	-	-	-	-	-	het	2

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding CA4 17:58227297..58248260 region Gbrowse